positive regulation of dendritic cell dendrite assembly


negative regulation of intermediate filament polymerization

biolink:BiologicalProcess biolink:Occurrent biolink:OntologyClass biolink:BiologicalProcessOrActivity biolink:BiologicalEntity biolink:NamedThing biolink:Entity biolink:PhysicalEssenceOrOccurrent


positive regulation of myosin II filament assembly


regulation of endocytosis by exocyst localization


negative regulation of death-inducing signaling complex assembly


negative regulation of apoptosome assembly


positive regulation of plasma membrane raft polarization


regulation of silent mating-type cassette heterochromatin formation


negative regulation of DNA duplex unwinding


cell growth mode switching, monopolar to bipolar


regulation of mitotic spindle disassembly


negative regulation of sarcomere organization


regulation of ascospore-type prospore membrane formation


negative regulation of synaptic vesicle endocytosis


negative regulation of beta 2 integrin biosynthetic process


regulation of basement membrane organization


negative regulation of starch utilization system complex assembly


negative regulation of plasma membrane raft polarization


positive regulation of dorsal/ventral axon guidance


regulation of actin filament organization


regulation of synaptic vesicle uncoating


positive regulation of maintenance of mitotic sister chromatid cohesion, telomeric


positive regulation of mitotic cohesin ssDNA (lagging strand) loading


regulation of mitotic actomyosin contractile ring disassembly


negative regulation of non-motile cilium assembly


negative regulation of stress granule assembly


positive regulation of synaptic vesicle fusion to presynaptic active zone membrane


negative regulation of extracellular exosome assembly


negative regulation of astral microtubule depolymerization


positive regulation of synaptic vesicle priming


negative regulation of G protein-coupled receptor internalization


regulation of pericentric heterochromatin formation


positive regulation of inhibitory synapse assembly


positive regulation of cytokinesis, actomyosin contractile ring assembly


negative regulation of nodal receptor complex assembly


positive regulation of cardiac myofibril assembly


positive regulation of membrane invagination


positive regulation of terminal button organization


regulation of fusion of sperm to egg plasma membrane


regulation of cytoplasmic microtubule depolymerization


regulation of formin-nucleated actin cable assembly


regulation of spermatid nuclear differentiation


negative regulation of collateral sprouting in absence of injury


regulation of DNA recombinase disassembly


negative regulation of lysosome organization


negative regulation of DNA helicase activity


positive regulation of integrin activation by cell surface receptor linked signal transduction

biolink:Pathway biolink:OntologyClass biolink:BiologicalProcess biolink:Occurrent biolink:BiologicalProcessOrActivity biolink:BiologicalEntity biolink:NamedThing biolink:Entity biolink:PhysicalEssenceOrOccurrent


regulation of maintenance of mitotic sister chromatid cohesion, arms


negative regulation of mitotic cohesin loading


negative regulation of synapse organization


negative regulation of FACT complex assembly


negative regulation of endothelial microparticle formation


positive regulation of nucleosome disassembly


negative regulation of excitatory synapse pruning


negative regulation of terminal button organization


positive regulation of mediator complex assembly


regulation of cell wall chitin catabolic process


regulation of meiosis I spindle assembly checkpoint


negative regulation of actin cortical patch assembly


positive regulation of intralumenal vesicle formation


negative regulation of anterior/posterior axon guidance


positive regulation of ascospore-type prospore membrane formation


positive regulation of type IV pilus biogenesis


positive regulation of receptor-mediated endocytosis involved in cholesterol transport


positive regulation of microvillus length


regulation of eukaryotic translation initiation factor 4F complex assembly


negative regulation of dendritic spine maintenance


positive regulation of actin filament polymerization involved in acrosome reaction


negative regulation of ubiquitin-dependent endocytosis


negative regulation of intermediate filament depolymerization


negative regulation of bipolar cell growth


regulation of follicle cell microvillus length


positive regulation of endosome organization


negative regulation of G-quadruplex DNA unwinding


negative regulation of mitotic actomyosin contractile ring assembly


positive regulation of cell-substrate junction organization


regulation of fusion of virus membrane with host plasma membrane


positive regulation of VCP-NPL4-UFD1 AAA ATPase complex assembly


positive regulation of motor neuron axon guidance


negative regulation of oocyte karyosome formation


positive regulation of actin filament depolymerization involved in acrosome reaction


negative regulation of SNARE complex disassembly


negative regulation of mitotic cohesin ssDNA (lagging strand) loading


negative regulation of plasma membrane bounded cell projection assembly


regulation of motor neuron axon guidance


regulation of neuron projection arborization


positive regulation of DNA duplex unwinding


negative regulation of dendrite extension


positive regulation of metaphase/anaphase transition of meiosis I


positive regulation of maintenance of meiotic sister chromatid cohesion, arms


regulation of collateral sprouting of injured axon


negative regulation of capsule organization


positive regulation by symbiont of host receptor-mediated endocytosis


negative regulation of primary cell septum biogenesis


positive regulation of DNA helicase activity


negative regulation of low-density lipoprotein receptor activity


positive regulation of septation initiation signaling


regulation of mitotic spindle formation (spindle phase one)


negative regulation of cristae formation


negative regulation of chondrocyte hypertrophy


regulation of vesicle fusion with Golgi apparatus


negative regulation of synaptic assembly at neuromuscular junction


negative regulation of gut granule assembly


negative regulation of microvillus assembly


positive regulation of sensory neuron axon guidance


negative regulation of DNA recombinase mediator complex assembly


positive regulation of Golgi vesicle fusion to target membrane


negative regulation of postsynaptic density assembly


positive regulation of endosomal vesicle fusion


negative regulation of pseudohyphal growth


positive regulation of phosphatidylserine exposure on apoptotic cell surface


negative regulation of axonemal microtubule depolymerization


positive regulation of SNARE complex disassembly


positive regulation of maintenance of meiotic sister chromatid cohesion, centromeric


regulation of terminal button organization


negative regulation of dorsal/ventral axon guidance


negative regulation of collagen fibril organization


positive regulation of chloroplast fission


positive regulation of myosin II filament organization


regulation of anterior/posterior axon guidance


modulation by symbiont of host receptor-mediated endocytosis


negative regulation of division septum assembly


negative regulation of maintenance of mitotic sister chromatid cohesion, centromeric


negative regulation of synaptic vesicle uncoating


positive regulation of metaphase/anaphase transition of meiosis II


positive regulation of mating projection assembly


negative regulation of mitotic spindle formation (spindle phase one)


regulation of assembly of large subunit precursor of preribosome


positive regulation of G-quadruplex DNA unwinding


positive regulation of vesicle fusion with Golgi apparatus


negative regulation of synapse structural plasticity


negative regulation of motile cilium assembly


regulation of oocyte karyosome formation


positive regulation of clathrin-coated pit assembly


nucleotide-excision repair, preincision complex stabilization


regulation of postsynaptic neurotransmitter receptor internalization


negative regulation of mitotic nuclear envelope disassembly


negative regulation of phagosome maturation


regulation of lateral attachment of mitotic spindle microtubules to kinetochore


positive regulation of synaptonemal complex assembly


positive regulation of intermediate filament depolymerization


cell growth mode switching, bipolar to monopolar


negative regulation of maintenance of mitotic sister chromatid cohesion, arms


regulation of bacterial-type flagellum assembly


positive regulation of lysosome organization


positive regulation of centriole elongation


positive regulation of kinetochore assembly


positive regulation of chromosome condensation


positive regulation of cohesin unloading


regulation of Atg1/ULK1 kinase complex assembly


regulation of primary cell septum biogenesis


positive regulation of oocyte karyosome formation


regulation of inhibitory synapse assembly


regulation of G protein-coupled receptor internalization


negative regulation of cohesin unloading


regulation of phosphatidylserine exposure on apoptotic cell surface


negative regulation of fusion of sperm to egg plasma membrane


positive regulation of mitotic division septum assembly


positive regulation of synapse maturation by synaptic transmission


negative regulation of membrane invagination


positive regulation by symbiont of host vacuole organization


positive regulation of SNARE complex assembly


regulation of myosin II filament disassembly


negative regulation of pseudopodium assembly


negative regulation of postsynaptic density organization


regulation of Wnt-Frizzled-LRP5/6 complex assembly


negative regulation of unidimensional cell growth


positive regulation of mitotic actomyosin contractile ring assembly


regulation of excitatory synapse pruning


regulation of formation of growth cone in injured axon


positive regulation of shelterin complex assembly


regulation of G-quadruplex DNA unwinding


negative regulation of fusion of virus membrane with host plasma membrane


regulation of mitotic division septum assembly


positive regulation of intraciliary anterograde transport


positive regulation of Lewy body formation


negative regulation of monopolar cell growth


regulation of nodal receptor complex assembly


negative regulation of endosome organization


negative regulation of cytoplasmic mRNA processing body assembly


positive regulation of maintenance of mitotic sister chromatid cohesion, arms


positive regulation of melanosome organization


positive regulation of engulfment of apoptotic cell


positive regulation of metaphase/anaphase transition of meiotic cell cycle


negative regulation of metaphase/anaphase transition of meiosis II


modulation by virus of syncytium formation via plasma membrane fusion


regulation of cell wall chitin biosynthetic process


positive regulation of cellulosome assembly


negative regulation of Atg1/ULK1 kinase complex assembly


positive regulation of division septum assembly


negative regulation of podosome assembly


positive regulation of heterochromatin organization


positive regulation of beta 2 integrin biosynthetic process


positive regulation of neuron projection arborization


regulation of actin filament organization involved in mitotic actomyosin contractile ring assembly


positive regulation of bicellular tight junction assembly


positive regulation of cellular component organization


positive regulation of attachment of mitotic spindle microtubules to kinetochore


regulation of microtubule nucleation by Ran protein signal transduction


negative regulation of direction of cell growth


regulation of modification of synaptic structure


regulation of maintenance of meiotic sister chromatid cohesion, centromeric


negative regulation of mitotic cohesin dsDNA (leading strand) loading


regulation of modification of postsynaptic structure


positive regulation of anterior/posterior axon guidance


positive regulation of mitotic cohesin loading


regulation of metaphase/anaphase transition of meiosis I


negative regulation of receptor-mediated endocytosis involved in cholesterol transport


regulation of siRNA-dependent facultative heterochromatin formation


regulation of initiation of mating projection growth


negative regulation of septation initiation signaling


positive regulation of mitotic spindle formation (spindle phase one)


negative regulation of engulfment of apoptotic cell


negative regulation of intralumenal vesicle formation


regulation of mitotic actomyosin contractile ring maintenance


regulation of sensory neuron axon guidance


positive regulation of mitotic chromosome condensation


regulation of synaptic membrane adhesion


positive regulation of vacuole fusion, non-autophagic


regulation of shelterin complex assembly


negative regulation of cell-substrate junction organization


positive regulation of secondary cell septum biogenesis


negative regulation of maintenance of meiotic sister chromatid cohesion, centromeric


negative regulation of secretory granule organization


negative regulation of neuron projection arborization


positive regulation of pseudohyphal septin ring assembly


regulation of heterochromatin organization


negative regulation of inhibitory synapse assembly


positive regulation of motile cilium assembly


regulation of follicle cell microvillus organization


negative regulation of extracellular matrix assembly


regulation of dynamin family protein polymerization involved in membrane fission


regulation of actin filament organization involved in cytokinetic actomyosin contractile ring assembly


negative regulation of extracellular matrix constituent secretion


regulation of clathrin-coated pit assembly


regulation of free ubiquitin chain polymerization


regulation of microtubule anchoring at centrosome


positive regulation of chromatin organization


positive regulation of free ubiquitin chain polymerization


negative regulation of plasma membrane repair


activation of mitotic cell cycle spindle assembly checkpoint


negative regulation of mitotic chromosome condensation


negative regulation of motor neuron axon guidance


negative regulation of maintenance of meiotic sister chromatid cohesion, arms


regulation of receptor-mediated endocytosis involved in cholesterol transport


positive regulation of maintenance of mitotic sister chromatid cohesion, centromeric


negative regulation of DNA recombinase disassembly


regulation of synaptic vesicle membrane organization


negative regulation of sensory neuron axon guidance


positive regulation of beta-catenin-TCF complex assembly


negative regulation of clathrin-coated pit assembly


negative regulation of type IV pilus biogenesis


regulation of phragmoplast microtubule organization


negative regulation of Lewy body formation


negative regulation of bacterial-type flagellum assembly


regulation of termination of mating projection growth


negative regulation of endosomal vesicle fusion


positive regulation of clathrin coat assembly


negative regulation of Wnt-Frizzled-LRP5/6 complex assembly


regulation of unidimensional cell growth


negative regulation of cell growth involved in contact inhibition


positive regulation of formin-nucleated actin cable assembly


positive regulation of excitatory synapse assembly


regulation of protein insertion into mitochondrial outer membrane


positive regulation of bacterial-type flagellum assembly


regulation of cell wall chitin metabolic process


negative regulation of maintenance of meiotic sister chromatid cohesion


positive regulation of mitotic actomyosin contractile ring disassembly


regulation of myosin II filament assembly


regulation of attachment of mitotic spindle microtubules to kinetochore


regulation of myosin II filament organization


regulation of synaptonemal complex assembly


regulation of maintenance of meiotic sister chromatid cohesion


Wnt signaling pathway, regulating spindle positioning


positive regulation of cell septum assembly


negative regulation of Golgi vesicle fusion to target membrane


regulation of modification of postsynaptic actin cytoskeleton


positive regulation of meiosis I spindle assembly checkpoint


regulation of intermediate filament depolymerization


negative regulation of myosin II filament assembly


modulation by symbiont of host vacuole organization


positive regulation of presynaptic active zone assembly


regulation of postsynaptic density organization


negative regulation of metaphase/anaphase transition of meiotic cell cycle


negative regulation of synaptic vesicle membrane organization


regulation of siRNA-independent facultative heterochromatin formation


positive regulation of cristae formation


negative regulation of shelterin complex assembly


negative regulation of melanosome organization


regulation of formation of translation initiation ternary complex


positive regulation of spermatid nuclear differentiation


negative regulation of spermatid nuclear differentiation


positive regulation of synaptic vesicle uncoating


positive regulation of Atg1/ULK1 kinase complex assembly


regulation of postsynaptic specialization assembly


negative regulation of phosphatidylserine exposure on apoptotic cell surface


negative regulation of supramolecular fiber organization


regulation of metaphase/anaphase transition of meiotic cell cycle


regulation of small non-coding RNA-mediated heterochromatin formation


regulation of death-inducing signaling complex assembly


regulation of proteasome core complex assembly


positive regulation of maintenance of meiotic sister chromatid cohesion


negative regulation of actin filament annealing


positive regulation of microvillus assembly


regulation of collagen fibril organization


negative regulation of actin filament organization involved in mitotic actomyosin contractile ring assembly


negative regulation of macrophage fusion


regulation of phospholipid scramblase activity


positive regulation of protein localization to actin cortical patch


negative regulation by symbiont of host protein localization to phagocytic vesicle


negative regulation of Wnt protein secretion


positive regulation of protein localization to meiotic spindle pole body


regulation of protein localization to spindle pole body


positive regulation of endosome to plasma membrane protein transport


positive regulation of protein localization to basolateral plasma membrane


negative regulation of lipoprotein transport


negative regulation of protein localization to phagocytic vesicle


positive regulation of protein localization to centrosome


regulation of protein localization to cell-cell junction


positive regulation of protein localization to presynapse


positive regulation of protein localization to kinetochore


regulation of protein localization to cell leading edge


regulation of asymmetric protein localization involved in cell fate determination


negative regulation of protein localization to lysosome


regulation of post-translational protein targeting to membrane, translocation


negative regulation of protein localization to microtubule


negative regulation of protein localization to cell leading edge


negative regulation of protein localization to actin cortical patch


regulation of protein localization to chromatin


negative regulation of receptor clustering


negative regulation of establishment of protein localization to telomere


positive regulation of secretion of lysosomal enzymes


regulation of protein localization to cell cortex


regulation of axo-dendritic protein transport


positive regulation of axo-dendritic protein transport


regulation of protein targeting to vacuole involved in autophagy


positive regulation of Wnt protein secretion


positive regulation of protein localization to endoplasmic reticulum


positive regulation of matrix metallopeptidase secretion


regulation of protein localization to prospore membrane


negative regulation of protein localization to basolateral plasma membrane


negative regulation of renin secretion into blood stream


positive regulation of protein localization to membrane


negative regulation of BMP signaling pathway by negative regulation of BMP secretion


negative regulation of protein localization to ciliary membrane


regulation of protein localization to lysosome


positive regulation of protein targeting to vacuole involved in autophagy


positive regulation of pancreatic amylase secretion by cholecystokinin signaling pathway


negative regulation of protein localization to spindle pole body


regulation of protein localization to presynapse


negative regulation of protein localization to cell-cell junction


negative regulation of protein localization to non-growing cell tip


negative regulation of pancreatic amylase secretion


regulation of protein localization to phagocytic vesicle


regulation of protein localization to centrosome


regulation of protein localization to cell tip


negative regulation of protein localization to cell cortex


negative regulation of protein localization to nucleolus


regulation of protein localization to membrane


negative regulation of secretion of lysosomal enzymes


negative regulation of matrix metallopeptidase secretion


positive regulation of protein localization to cell leading edge


regulation of protein localization to kinetochore


negative regulation of protein localization to membrane


negative regulation of protein localization to cilium


positive regulation of protein localization to endosome


regulation of protein localization to mitotic spindle pole body


positive regulation of pancreatic amylase secretion


regulation of protein localization to endoplasmic reticulum


positive regulation of protein localization to ciliary membrane


regulation of protein localization to ciliary membrane


negative regulation of protein localization to centrosome


positive regulation of protein localization to lysosome


negative regulation of protein localization to presynapse


negative regulation of skeletal muscle acetylcholine-gated channel clustering


negative regulation of prolactin secretion


regulation of protein localization to endosome


negative regulation of protein localization to cell cortex of cell tip


positive regulation of protein localization to cell-cell junction


positive regulation of protein localization to cell cortex


modulation by symbiont of host protein localization to phagocytic vesicle


regulation of matrix metallopeptidase secretion


regulation of protein localization to basolateral plasma membrane


regulation of protein localization to non-growing cell tip


positive regulation of protein localization to prospore membrane


negative regulation of protein localization to kinetochore


positive regulation of lipoprotein transport


positive regulation of protein localization to cell tip


regulation of pancreatic trypsinogen secretion


regulation of protein localization to cilium


regulation of glutamate receptor clustering


regulation of AMPA glutamate receptor clustering


regulation of pancreatic amylase secretion


regulation of protein localization to adherens junction


regulation of protein localization to microtubule


negative regulation of t-SNARE clustering


negative regulation of protein localization to endosome


positive regulation of protein import into chloroplast stroma


negative regulation of protein localization to adherens junction


regulation of protein localization to actin cortical patch


positive regulation of protein localization to cilium


positive regulation of protein localization to spindle pole body


negative regulation of protein localization to meiotic spindle pole body


positive regulation of asymmetric protein localization involved in cell fate determination


regulation of protein localization to meiotic spindle pole body


negative regulation of protein localization to Cajal body


regulation of protein targeting to vacuolar membrane


negative regulation of asymmetric protein localization involved in cell fate determination


regulation of neurotransmitter receptor localization to postsynaptic specialization membrane


positive regulation of protein targeting to vacuolar membrane


negative regulation of protein localization to mitotic spindle pole body


regulation of neurotransmitter receptor transport, endosome to postsynaptic membrane


positive regulation of protein export from nucleus during meiotic anaphase II


negative regulation of protein localization to chromatin


positive regulation of t-SNARE clustering


regulation of protein localization by the Cvt pathway


regulation of endosome to plasma membrane protein transport


positive regulation of chromosome passenger complex localization to kinetochore


regulation of protein localization to cell cortex of cell tip


positive regulation of pancreatic trypsinogen secretion


positive regulation of protein localization to phagocytic vesicle


positive regulation of protein export from nucleus in response to glucose starvation


positive regulation of protein localization to chromatin


regulation of protein import into chloroplast stroma


negative regulation of protein localization to cell tip


negative regulation of pancreatic trypsinogen secretion


negative regulation of protein localization to endoplasmic reticulum


myopathy caused by variation in FKRP

biolink:Disease biolink:DiseaseOrPhenotypicFeature biolink:ThingWithTaxon biolink:BiologicalEntity biolink:NamedThing biolink:Entity


qualitative or quantitative defects of alpha-dystroglycan


autosomal recessive limb-girdle muscular dystrophy type 2U


qualitative or quantitative defects of protein glycosyltransferase-like


muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6


muscular dystrophy-dystroglycanopathy type B5


autosomal recessive limb-girdle muscular dystrophy type 2O


muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8


qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan


primary qualitative or quantitative defects of alpha-dystroglycan


muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7


muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13


limb-girdle muscular dystrophy due to POMK deficiency


muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5


muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1


qualitative or quantitative defects of protein O-mannosyltransferase 1


qualitative or quantitative defects of fukutin


muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3


qualitative or quantitative defects of FKRP


muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10


muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3


autosomal recessive limb-girdle muscular dystrophy type 2K


muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12


muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9


autosomal recessive limb-girdle muscular dystrophy type 2I


autosomal recessive limb-girdle muscular dystrophy type 2N


muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2


qualitative or quantitative defects of protein O-mannose beta1, 2N-acetylglucosaminyltransferase


qualitative or quantitative defects of protein O-mannosyltransferase 2


muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11


muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2


muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1


Left Suprarenal Vein

biolink:AnatomicalEntity biolink:ThingWithTaxon biolink:PhysicalEssence biolink:OrganismalEntity biolink:BiologicalEntity biolink:NamedThing biolink:Entity biolink:PhysicalEssenceOrOccurrent


acyl-CoA N-acyltransferase activity

biolink:MolecularActivity biolink:Occurrent biolink:OntologyClass biolink:BiologicalProcessOrActivity biolink:BiologicalEntity biolink:NamedThing biolink:Entity biolink:PhysicalEssenceOrOccurrent


celiac lymph node

biolink:GrossAnatomicalStructure biolink:AnatomicalEntity biolink:ThingWithTaxon biolink:PhysicalEssence biolink:OrganismalEntity biolink:BiologicalEntity biolink:NamedThing biolink:Entity biolink:PhysicalEssenceOrOccurrent


negative regulation of toll-like receptor 9 signaling pathway


Stage IIIB Ovarian Germ Cell Tumor AJCC v6 and 7


Stage IIIA Ovarian Cancer AJCC v6 and v7


Ovarian Sex Cord-Stromal Tumor, Not Otherwise Specified


Recurrent Malignant Ovarian Brenner Tumor


Stage IC Ovarian Germ Cell Tumor AJCC v6 and v7


ovarian endometrioid stromal and related neoplasms


Borderline Ovarian Mucinous Tumor/Atypical Proliferative Ovarian Mucinous Tumor with Microinvasion


Stage IV Ovarian Embryonal Carcinoma AJCC v6 and v7


Borderline Ovarian Mixed Epithelial Tumor/Atypical Proliferative Ovarian Mixed Epithelial Tumor


Metastatic Ovarian Clear Cell Adenocarcinoma


Stage IIB Ovarian Germ Cell Tumor AJCC v6 and v7


Recurrent Ovarian Transitional Cell Carcinoma


Recurrent Ovarian Undifferentiated Carcinoma


Stage I Ovarian Germ Cell Tumor AJCC v6 and v7


malignant sex cord stromal tumor of ovary


Stage II Borderline Ovarian Surface Epithelial-Stromal Tumor


Well Differentiated Ovarian Steroid Cell Tumor


Refractory Ovarian Clear Cell Adenocarcinoma


Stage IB Ovarian Germ Cell Tumor AJCC v6 and v7


Borderline Ovarian Clear Cell Tumor/Atypical Proliferative Ovarian Clear Cell Tumor with Intraepithelial Carcinoma


malignant non-dysgerminomatous germ cell tumor of ovary


Stage II Ovarian Polyembryoma AJCC v6 and v7


Stage I Borderline Ovarian Surface Epithelial-Stromal Tumor


Stage IIIA Ovarian Germ Cell Tumor AJCC v6 and v7


Ovarian germ cell choriocarcinoma stage II


Recurrent BRCA- Associated Ovarian Carcinoma


Refractory Extrarenal Rhabdoid Tumor of the Ovary


Borderline Ovarian Serous Tumor/Atypical Proliferative Ovarian Serous Tumor


Stage IIIB Ovarian Cancer AJCC v6 and v7


Refractory Ovarian Squamous Cell Carcinoma


Stage IV Ovarian Polyembryoma AJCC v6 and v7


Ovarian germ cell choriocarcinoma stage I


Ovarian Smooth Muscle Tumor of Uncertain Malignant Potential


Poorly Differentiated Ovarian Sertoli-Leydig Cell Tumor


Ovarian Mucinous Cystic Tumor Associated with Pseudomyxoma Peritonei


Stage I Ovarian Dysgerminoma AJCC v6 and v7


Ovarian Low Grade Endometrioid Stromal Sarcoma


Ovarian Sertoli Cell Tumor with Lipid Storage


Recurrent Malignant Ovarian Granulosa Cell Tumor


Refractory Ovarian Transitional Cell Carcinoma


Borderline Ovarian Endometrioid Adenofibroma


Stage IIA Ovarian Germ Cell Tumor AJCC v6 and v7


Metastatic Ovarian Endometrioid Adenocarcinoma


Borderline Ovarian Seromucinous Tumor/Atypical Proliferative Ovarian Seromucinous Tumor with Microinvasion


Metastatic Ovarian Small Cell Carcinoma, Hypercalcemic Type


Borderline Ovarian Endometrioid Tumor/Atypical Proliferative Ovarian Endometrioid Tumor


Borderline Ovarian Serous Tumor/Atypical Proliferative Ovarian Serous Tumor with Microinvasion


Borderline Ovarian Seromucinous Tumor/Atypical Proliferative Ovarian Seromucinous Tumor


Moderately Differentiated Ovarian Sertoli-Leydig Cell Tumor


Recurrent Borderline Ovarian Surface Epithelial-Stromal Tumor


Ovarian Sex Cord-Stromal Tumor Associated with Peutz-Jeghers Syndrome


Stage III Ovarian Polyembryoma AJCC v6 and v7


Juvenile Type Bilateral Ovarian Granulosa Cell Tumor


Stage III Ovarian Dysgerminoma AJCC v6 and v7


Ovarian Sertoli-Leydig Cell Tumor with Heterologous Elements


Mucinous adenofibroma of borderline malignancy


Refractory Malignant Ovarian Brenner Tumor


Clear cell adenofibroma of borderline malignancy


Borderline Ovarian Serous Cystadenofibroma


Borderline Ovarian Clear Cell Cystadenofibroma


Stage II Ovarian Yolk Sac Tumor AJCC v6 and v7


Childhood Ovarian Nongerminomatous Germ Cell Tumor


Childhood Malignant Ovarian Germ Cell Tumor


Ovarian Stromal Tumor with Minor Sex Cord Elements


Ovarian Mixed Germ Cell-Sex Cord-Stromal Tumor


Stage IV Borderline Ovarian Surface Epithelial-Stromal Tumor


Ovarian Mixed Germ Cell-Sex Cord-Stromal Tumor, Unclassified


Unresectable Ovarian Endometrioid Adenocarcinoma


Refractory Ovarian Mucinous Adenocarcinoma


Recurrent Ovarian Seromucinous Carcinoma


Borderline Ovarian Endometrioid Tumor/Atypical Proliferative Ovarian Endometrioid Tumor with Microinvasion


Recurrent Platinum-Resistant Ovarian Carcinoma


Stage II Ovarian Dysgerminoma AJCC v6 and v7


Refractory Ovarian Undifferentiated Carcinoma


Metastatic Ovarian Undifferentiated Carcinoma


Recurrent Ovarian Endometrioid Adenocarcinoma


Stage IV Ovarian Germ Cell Tumor AJCC v6 and v7


Metastatic Microsatellite Stable Ovarian Carcinoma


Stage IV Ovarian Dysgerminoma AJCC v6 and v7


Stage IA Ovarian Germ Cell Tumor AJCC v6 and v7


Metastatic Platinum-Resistant Ovarian Carcinoma


Recurrent Ovarian Clear Cell Adenocarcinoma


Metastatic Ovarian Mucinous Adenocarcinoma


Ovarian Steroid Cell Tumor, Not Otherwise Specified


Stage I Ovarian Polyembryoma AJCC v6 and v7


Refractory Ovarian Endometrioid Adenocarcinoma


Sertoli-Leydig cell tumor, intermediate differentiation, with heterologous elements


Well Differentiated Ovarian Sertoli-Leydig Cell Tumor


Borderline Ovarian Serous Tumor-Micropapillary Variant/Non-Invasive Low Grade Ovarian Serous Carcinoma


Stage IV Ovarian Yolk Sac Tumor AJCC v6 and v7


Poorly Differentiated Ovarian Sertoli-Leydig Cell Tumor, Variant with Heterologous Elements


Stage I Ovarian Yolk Sac Tumor AJCC v6 and v7


Ovarian Retiform Sertoli-Leydig Cell Tumor, Variant with Heterologous Elements


Stage IIC Ovarian Germ Cell Tumor AJCC v6 and v7


Ovarian Leydig Cell Tumor, Non-Hilar Type


Borderline Ovarian Mucinous Tumor, Intestinal Type


Stage I Ovarian Embryonal Carcinoma AJCC v6 and v7


Recurrent Extrarenal Rhabdoid Tumor of the Ovary


Stage III Ovarian Embryonal Carcinoma AJCC v6 and v7


Stage III Borderline Ovarian Surface Epithelial-Stromal Tumor


Stage II Ovarian Germ Cell Tumor AJCC v6 and v7


Recurrent Ovarian Mucinous Adenocarcinoma


Borderline Ovarian Mucinous Tumor, Endocervical-Like


Solid Pseudopapillary Neoplasm of the Ovary


Ovarian Tumor of the Thecoma/Fibroma Group


Ovarian Luteinized Thecoma Associated with Sclerosing Peritonitis


Ovarian germ cell choriocarcinoma stage III


Unresectable Ovarian Undifferentiated Carcinoma


Stage III Ovarian Yolk Sac Tumor AJCC v6 and v7


Refractory Ovarian Seromucinous Carcinoma


Stage IIIC Ovarian Germ Cell Tumor AJCC v6 and v7


Borderline Ovarian Mucinous Tumor/Atypical Proliferative Ovarian Mucinous Tumor with Intraepithelial Carcinoma


Unresectable Ovarian Mucinous Adenocarcinoma


Borderline Ovarian Endometrioid Cystadenofibroma


Ovarian Sex Cord Tumor with Annular Tubules


Stage III Ovarian Germ Cell Tumor AJCC v6 and v7


Stage II Ovarian Embryonal Carcinoma AJCC v6 and v7


Ovarian Retiform Sertoli-Leydig Cell Tumor


Borderline Ovarian Mucinous Tumor/Atypical Proliferative Ovarian Mucinous Tumor


Unresectable Platinum-Resistant Ovarian Carcinoma


Ovarian germ cell choriocarcinoma stage IV


Borderline Ovarian Clear Cell Tumor/Atypical Proliferative Ovarian Clear Cell Tumor


Stage IIIA Choroidal and Ciliary Body Melanoma AJCC v8


hydroperoxy icosatetraenoate isomerase activity


5-(carboxyamino)imidazole ribonucleotide mutase activity


D-sedoheptulose 7-phosphate isomerase activity


intramolecular transferase activity, transferring acyl groups


beta-galactosidase activity (lactose isomerization)


2,3-bisphosphoglycerate-independent phosphoglycerate mutase activity


9,12-octadecadienoate 8-hydroperoxide 8S-isomerase activity


intramolecular transferase activity, transferring amino groups


intramolecular transferase activity, transferring hydroxy groups


double membrane vesicle viral factory outer membrane

biolink:CellularComponent biolink:AnatomicalEntity biolink:ThingWithTaxon biolink:PhysicalEssence biolink:OrganismalEntity biolink:BiologicalEntity biolink:NamedThing biolink:Entity biolink:PhysicalEssenceOrOccurrent


double membrane vesicle viral factory membrane


double membrane vesicle viral factory inner membrane


Postneoadjuvant Therapy Stage IIIB Esophageal Squamous Cell Carcinoma AJCC v8


regulation of tolerance induction to tumor cell


negative regulation of natural killer cell mediated immune response to tumor cell


negative regulation of response to tumor cell


negative regulation of immune response to tumor cell


positive regulation of T cell mediated cytotoxicity directed against tumor cell target


positive regulation of T cell mediated immune response to tumor cell


negative regulation of T cell mediated cytotoxicity directed against tumor cell target


negative regulation of natural killer cell mediated cytotoxicity directed against tumor cell target


negative regulation of tolerance induction to tumor cell


regulation of T cell mediated cytotoxicity directed against tumor cell target


negative regulation of T cell mediated immune response to tumor cell


positive regulation of tolerance induction to tumor cell


sn-2-glycerol-3-phosphate omega-OH-C22:0-CoA acyl transferase activity


Stage IV Esophageal Squamous Cell Carcinoma AJCC v7


Esophageal Well Differentiated Squamous Cell Carcinoma


Clinical Stage IV Esophageal Squamous Cell Carcinoma AJCC v8


Postneoadjuvant Therapy Stage I Esophageal Squamous Cell Carcinoma AJCC v8


Cervical Esophagus Squamous Cell Carcinoma


Clinical Stage II Esophageal Squamous Cell Carcinoma AJCC v8


Stage II Esophageal Squamous Cell Carcinoma AJCC v7


Pathologic Stage 0 Esophageal Squamous Cell Carcinoma AJCC v8


Stage IB Esophageal Squamous Cell Carcinoma AJCC v7


Pathologic Stage IB Esophageal Squamous Cell Carcinoma AJCC v8


Stage IIIC Esophageal Squamous Cell Carcinoma AJCC v7


Postneoadjuvant Therapy Stage III Esophageal Squamous Cell Carcinoma AJCC v8


Stage I Esophageal Squamous Cell Carcinoma AJCC v7


Esophageal Squamous Cell Carcinoma by AJCC v7 Stage


Pathologic Stage IA Esophageal Squamous Cell Carcinoma AJCC v8


Clinical Stage IVB Esophageal Squamous Cell Carcinoma AJCC v8


Stage IIA Esophageal Squamous Cell Carcinoma AJCC v7


Refractory Esophageal Squamous Cell Carcinoma


Pathologic Stage IV Esophageal Squamous Cell Carcinoma AJCC v8


Stage IV Esophageal Squamous Cell Carcinoma


Pathologic Stage IIA Esophageal Squamous Cell Carcinoma AJCC v8


Alcohol-Related Esophageal Squamous Cell Carcinoma


Esophageal Squamous Cell Carcinoma by AJCC v8 Postneoadjuvant Therapy Stage


Pathologic Stage IVB Esophageal Squamous Cell Carcinoma AJCC v8


Unresectable Esophageal Squamous Cell Carcinoma


Stage IIIB Esophageal Squamous Cell Carcinoma AJCC v7


Clinical Stage III Esophageal Squamous Cell Carcinoma AJCC v8


Postneoadjuvant Therapy Stage IVB Esophageal Squamous Cell Carcinoma AJCC v8


Esophageal Poorly Differentiated Squamous Cell Carcinoma


Advanced Esophageal Squamous Cell Carcinoma


Clinical Stage 0 Esophageal Squamous Cell Carcinoma AJCC v8


Stage IIB Esophageal Squamous Cell Carcinoma AJCC v7


Thoracic Esophagus Squamous Cell Carcinoma


Esophageal Squamous Cell Carcinoma by AJCC v8 Pathologic Stage


Human Papillomavirus-Related Esophageal Squamous Cell Carcinoma


Pathologic Stage IVA Esophageal Squamous Cell Carcinoma AJCC v8


Clinical Stage I Esophageal Squamous Cell Carcinoma AJCC v8


Pathologic Stage IIIA Esophageal Squamous Cell Carcinoma AJCC v8


Postneoadjuvant Therapy Stage II Esophageal Squamous Cell Carcinoma AJCC v8


Distal Esophagus Squamous Cell Carcinoma


Locally Advanced Esophageal Squamous Cell Carcinoma


Stage IA Esophageal Squamous Cell Carcinoma AJCC v7


Stage IIIA Esophageal Squamous Cell Carcinoma AJCC v7


Pathologic Stage IIIB Esophageal Squamous Cell Carcinoma AJCC v8


Stage 0 Esophageal Squamous Cell Carcinoma AJCC v7


Postneoadjuvant Therapy Stage IVA Esophageal Squamous Cell Carcinoma AJCC v8


Clinical Stage IVA Esophageal Squamous Cell Carcinoma AJCC v8


Pathologic Stage IIB Esophageal Squamous Cell Carcinoma AJCC v8


Postneoadjuvant Therapy Stage IIIA Esophageal Squamous Cell Carcinoma AJCC v8


Stage III Esophageal Squamous Cell Carcinoma AJCC v7


Pathologic Stage III Esophageal Squamous Cell Carcinoma AJCC v8


Esophageal Squamous Cell Carcinoma by AJCC v8 Stage


Pathologic Stage II Esophageal Squamous Cell Carcinoma AJCC v8


Esophageal Squamous Cell Carcinoma by AJCC v8 Clinical Stage


Postneoadjuvant Therapy Stage IV Esophageal Squamous Cell Carcinoma AJCC v8


Esophageal Moderately Differentiated Squamous Cell Carcinoma


Pathologic Stage I Esophageal Squamous Cell Carcinoma AJCC v8


idiopathic hypersomnia with long sleep time


Stage IA Gastric and Omental Gastrointestinal Stromal Tumor AJCC v8


Hurting Pain

biolink:PhenotypicFeature biolink:DiseaseOrPhenotypicFeature biolink:ThingWithTaxon biolink:BiologicalEntity biolink:NamedThing biolink:Entity


positive regulation of smooth endoplasmic reticulum calcium ion concentration


extracellular sequestering of copper ion


negative regulation of smooth endoplasmic reticulum calcium ion concentration


intracellular sequestering of copper ion


regulation of presynaptic cytosolic calcium ion concentration


regulation of postsynaptic cytosolic calcium ion concentration


circadian regulation of calcium ion oscillation


negative regulation of mitochondrial calcium ion concentration


Stage IB Uterine Corpus Endometrial Stromal Sarcoma AJCC v8


granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3


anemia, nonspherocytic hemolytic, due to G6PD deficiency


anemia, nonspherocytic hemolytic, associated with abnormality of red cell membrane


anemia, nonspherocytic hemolytic, possibly due to defect in porphyrin metabolism


establishment of cell polarity regulating cell shape


glossopharyngeal-vagus IX-X preganglion complex


vestibulo-cochlear VIII ganglion complex


glossopharyngeal-vagus IX-X ganglion complex


heritable pulmonary arterial hypertension


female germ-line stem cell asymmetric division


symmetric division of skeletal muscle satellite stem cell


skeletal muscle satellite stem cell asymmetric division


male germline stem cell symmetric division


female germline stem cell symmetric division


skeletal muscle satellite stem cell asymmetric division involved in skeletal muscle regeneration


neural crest cell migration involved in heart formation


dorsolateral trunk neural crest cell migration


mesenchymal cell migration involved in limb bud formation


neural crest cell migration involved in sympathetic nervous system development


partial duplication of the short arm of chromosome 8


chromosome 8Q12.1-q21.2 deletion syndrome


partial deletion of the long arm of chromosome 8


partial deletion of the short arm of chromosome 8


partial duplication of the long arm of chromosome 8


8p inverted duplication/deletion syndrome


Central Nervous System CIC-Rearranged Sarcoma


sporadic adult-onset ataxia of unknown etiology


hypogonadotropic hypogonadism 13 with or without anosmia


craniosynostosis arthrogryposis cleft palate


hereditary thrombocytopenia and hematologic cancer predisposition syndrome


congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency


neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy


congenital generalized lipodystrophy type 1


intellectual disability, autosomal recessive 29


autosomal recessive non-syndromic intellectual disability


mirror movements 1 and/or agenesis of the corpus callosum


endometrioid stromal and related neoplasms


short stature with microcephaly and distinctive facies


recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome


malignant migrating partial seizures of infancy


radiation sensitivity/chromosome instability syndrome, autosomal dominant


hereditary sensory and autonomic neuropathy


intellectual disability, autosomal recessive 58


hyper-IgM syndrome without susceptibility to opportunistic infections


polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly


megalencephalic leukoencephalopathy with subcortical cysts 1


pelvic dysplasia-arthrogryposis of lower limbs syndrome


early T cell progenitor acute lymphoblastic leukemia


non-recovering obstetric brachial plexus lesion


complete atrioventricular canal-tetralogy of fallot syndrome


spastic paraplegia 80, autosomal dominant


PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome


congenital anomalies of kidney and urinary tract 3


lymphoma, Hodgkin, Y-linked pseudoautosomal


congenital hypothyroidism due to transplacental passage of maternal TSH-binding inhibitory antibodies


growth delay due to insulin-like growth factor type 1 deficiency


autosomal recessive pseudohypoaldosteronism type 1


congenital heart defects, multiple types, 3


hereditary angioedema with normal C1inh not related to F12 or PLG variant


ectodermal dysplasia neurosensory deafness


encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities


combined oxidative phosphorylation deficiency 28


metachromatic leukodystrophy, adult form


undifferentiated connective tissue syndrome


peroxisome biogenesis disorder due to PEX11B defect


mitochondrial complex 1 deficiency, nuclear type 36


Robertsonian translocation Down syndrome


neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features


skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome


neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies


melanotic psammomatous malignant peripheral nerve sheath tumor


homocystinuria without methylmalonic aciduria


mitochondrial complex 1 deficiency, nuclear type 4


uterine corpus endometrial stromal sarcoma


autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity


microcephaly, seizures, and developmental delay


autoimmune disorder of musculoskeletal system


methemoglobinemia due to deficiency of methemoglobin reductase


basal ganglia calcification, idiopathic, 8, autosomal recessive


autosomal recessive nonsyndromic hearing loss 88


combined oxidative phosphorylation deficiency


myeloid neoplasm associated with PDGFRA rearrangement


neoplasm with perivascular epithelioid cell differentiation


hypouricemia, familial renal, due to tubular hypersecretion


painful orbital and systemic neurofibromas-marfanoid habitus syndrome


acromesomelic dysplasia, Campailla Martinelli type


autosomal dominant Charcot-Marie-Tooth disease type 2K


coronary artery disease, autosomal dominant 2


Pelizaeus-Merzbacher disease, transitional form


hypogonadotropic hypogonadism 11 with or without anosmia


familial reactive perforating collagenosis


non-syndromic male infertility due to sperm motility disorder


microcephaly, short stature, and impaired glucose metabolism 1


developmental anomaly of metabolic origin


sickle cell-hemoglobin E disease syndrome


ichthyosis-intellectual disability-dwarfism-renal impairment syndrome


frontonasal dysplasia with alopecia and genital anomaly


neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation


hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome


congenital infiltrating lipomatosis of the face


congenital muscular dystrophy caused by variation in POMGNT2


postaxial polydactyly type A, unilateral


autosomal recessive nonsyndromic hearing loss 24


B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1)


qualitative or quantitative defects of titin


bulbospinal muscular atrophy of adulthood


Yersinia pseudotuberculosis infectious disease


mixed phenotype acute leukemia with t(v;11q23.3)


non-acquired pituitary hormone deficiency


male infertility with teratozoospermia due to single gene mutation


corpus callosum dysgenesis hypopituitarism


combined oxidative phosphorylation deficiency 32


glycerol kinase deficiency, infantile form


hereditary sensory and autonomic neuropathy type 4


non-syndromic renal or urinary tract malformation


congenital generalized lipodystrophy type 2


adult progressive spinal muscular atrophy, Aran Duchenne type


autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis


paternal uniparental disomy of chromosome 21


infantile neuronal ceroid lipofuscinosis


idiopathic steroid-sensitive nephrotic syndrome with diffuse mesangial proliferation


isolated autosomal dominant hypomagnesemia, Glaudemans type


pyridoxine-dependent epilepsy caused by ALDH7A1 mutant


Niemann-Pick disease type C, severe early infantile neurologic onset


pituitary deficiency due to empty sella turcica syndrome


malignant giant cell tumor of soft parts


hydrocephalus, congenital, 3, with brain anomalies


Pseudomonas aeruginosa infectious disease


nasal cavity and paranasal sinus neoplasm


endometrioid stromal and related neoplasms of the cervix


echinococcus granulosus infectious disease


radial deficiency-tibial hypoplasia syndrome


isolated oxidative phosphorylation complex disorder


hypercontractile muscle stiffness syndrome


erythrokeratodermia variabilis et progressiva 3


precursor T-cell acute lymphoblastic leukemia


spinal muscular atrophy with respiratory distress type 2


myopathy with hexagonally cross-linked tubular arrays


neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome


CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome


combined immunodeficiency due to GINS1 deficiency


autosomal dominant epidermolytic ichthyosis


body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency


X-linked intellectual disability, Cantagrel type


short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia


epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive


epidermolysis bullosa simplex 2E, with migratory circinate erythema


spinocerebellar ataxia, autosomal recessive 25


growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome


autosomal dominant cerebellar ataxia type II


autosomal dominant cerebellar ataxia type III


autosomal dominant nonsyndromic hearing loss 13


hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency


autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome


amyotrophic lateral sclerosis 26 with or without frontotemporal dementia


circadian rhythm sleep disorder, irregular sleep wake type


autosomal dominant nonsyndromic hearing loss


combined oxidative phosphorylation defect type 23


methylmalonic aciduria and/or homocystinuria, cblD type


intellectual disability, autosomal recessive 19


spinocerebellar ataxia, autosomal recessive 31


short-rib thoracic dysplasia 20 with polydactyly


combined oxidative phosphorylation defect type 4


autosomal dominant nonsyndromic hearing loss 6


atypical hemolytic-uremic syndrome with anti-factor H antibodies


autosomal dominant Charcot-Marie-Tooth disease type 2W


dominant pericentral pigmentary retinopathy


pulmonary atresia with ventricular septal defect


46,XY ovotesticular disorder of sex development


brachydactyly-elbow wrist dysplasia syndrome


idiopathic hypersomnia without long sleep time


spinal muscular atrophy-progressive myoclonic epilepsy syndrome


idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis


acute myeloid leukemia, GATA1 gene mutation


internal pathological resorption of tooth


localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms


autosomal dominant nonsyndromic hearing loss 70


myopathy, myosin storage, autosomal recessive


autoimmune disorder of the nervous system


peroxisome biogenesis disorder due to PEX2 defect


GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder


neuronopathy, distal hereditary motor, type 5C


autosomal recessive distal hereditary motor neuropathy


macrocephaly/megalencephaly syndrome, autosomal recessive


intellectual disability, autosomal dominant 40


arterial calcification, generalized, of infancy, 2


granulomatous disease, chronic, autosomal recessive, cytochrome b-negative


autosomal recessive nonsyndromic hearing loss 51


congenital disorder of glycosylation type II


facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome


arthrogryposis due to muscular dystrophy


hypogonadotropic hypogonadism 17 with or without anosmia


neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities


autoimmune disease, multisystem, infantile-onset, 2


Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2


spondyloepiphyseal dysplasia tarda, autosomal recessive


dermoid or epidermoid cyst of the central nervous system


intellectual disability-polydactyly-uncombable hair syndrome


polydactyly of a triphalangeal thumb, unilateral


progressive myoclonic epilepsy with dystonia


thygeson superficial punctate keratopathy


generalized bulbospinal muscular atrophy


congenital temporomandibular joint ankylosis


split hand or/and split foot malformation


intellectual developmental disorder and retinitis pigmentosa; IDDRP


Epstein-Barr virus-associated malignant lymphoproliferative disorder


proteasome-associated autoinflammatory syndrome 3


diaphragmatic or abdominal wall malformation


myopia, high, with cataract and vitreoretinal degeneration


neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism


congenital muscular dystrophy with cerebellar involvement


epidermolysis bullosa, junctional 2A, intermediate


inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3


classic congenital lipoid adrenal hyperplasia due to STAR deficency


STT3B-congenital disorder of glycosylation


epidermolysis bullosa dystrophica Neurotrophica


hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase


hemolytic anemia due to glucophosphate isomerase deficiency


mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria


acute myeloid leukemia, FLT3 tyrosine kinase domain point mutation


epithelial and subepithelial corneal dystrophy


Rubinstein-Taybi syndrome due to 16p13.3 microdeletion


disease arising from reactivation of latent virus


growth delay-hydrocephaly-lung hypoplasia syndrome


acute myeloid leukemia, t(11;15)(p15;q35)


AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome


leukoencephalopathy, diffuse hereditary, with spheroids 1


autosomal recessive progressive external ophthalmoplegia


mitochondrial complex I deficiency, nuclear type 1


autosomal recessive nonsyndromic hearing loss 6


hypomagnesemia, seizures, and intellectual disability 1


spondyloepimetaphyseal dysplasia with multiple dislocations


spinal muscular atrophy with congenital bone fractures 1


intellectual disability, autosomal dominant 53


developmental and epileptic encephalopathy, 29


myopathy, autophagic vacuolar, infantile-onset


macular dystrophy, fenestrated sheen type


cobblestone lissencephaly without muscular or ocular involvement


basal ganglia calcification, idiopathic, 5


autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation


mitochondrial complex 4 deficiency, nuclear type 20


autosomal dominant nonsyndromic hearing loss 49


intrauterine growth retardation with increased mitomycin c sensitivity


intellectual developmental disorder, autosomal recessive 67


furuncular myiasis due to Dermatobia hominis


hydrocephalus, nonsyndromic, autosomal recessive 1


recessive dystrophic epidermolysis bullosa-generalized other


Charcot-Marie-Tooth disease dominant intermediate E


oligoarticular juvenile idiopathic arthritis without anti-nuclear antibodies


familial idiopathic dilatation of the right atrium


intellectual disability, autosomal dominant 8


familial partial lipodystrophy, Dunnigan type


glycogen storage disease due to muscle and heart glycogen synthase deficiency


immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias


posttransplant acute limbic encephalitis


factor VII and Factor VIII, combined deficiency of


X-linked cerebral-cerebellar-coloboma syndrome syndrome


X-linked non progressive cerebellar ataxia


Curly hair - acral keratoderma - caries syndrome


fundus dystrophy, pseudoinflammatory, recessive form


autosomal recessive nonsyndromic hearing loss 2


isolated total cerebellar vermis agenesis


primary melanocytic tumor of central nervous system


hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1


familial primary hypomagnesemia with normocalciuria and normocalcemia


autosomal dominant complex spastic paraplegia


disorder of phospholipids, sphingolipids and fatty acids biosynthesis


syndromic X-linked intellectual disability 7


STAT3-related early-onset multisystem autoimmune disease


autosomal recessive nonsyndromic hearing loss 15


neurodevelopmental disorder with hypotonia, seizures, and absent language


benign partial epilepsy with secondarily generalized seizures in infancy


congenital stationary night blindness 1C


autosomal recessive nonsyndromic hearing loss 22


syndromic X-linked intellectual disability 34


dyskeratosis congenita, autosomal dominant 1


ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome


combined oxidative phosphorylation deficiency 35


congenital muscular dystrophy-infantile cataract-hypogonadism syndrome


cerebral sclerosis similar to Pelizaeus-Merzbacher disease


severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome


ciliary dyskinesia with defective radial spokes


disorder of development or morphogenesis


neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity


chronic acquired demyelinating polyneuropathy


qualitative or quantitative defects of integrin alpha-7


early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome


non-syndromic diaphragmatic or abdominal wall malformation


heterotopia, periventricular, associated with chromosome 5P anomalies


menstrual cycle-dependent periodic fever


congenital heart defects, multiple types, 6


craniodigital syndrome-intellectual disability syndrome


NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance


acquired idiopathic inflammatory myopathy


autosomal dominant hereditary axonal motor and sensory neuropathy


microcephaly 18, primary, autosomal dominant


complex cortical dysplasia with other brain malformations


partial duplication of the long arm of chromosome 19


autosomal recessive nonsyndromic hearing loss 38


mixed sclerosing bone dystrophy with extra-skeletal manifestations


Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive


combined oxidative phosphorylation deficiency 19


glycosylphosphatidylinositol biosynthesis defect 16


congenital primary megaureter, obstructed form


neuroaxonal dystrophy renal tubular acidosis


autoimmune interstitial lung disease-arthritis syndrome


congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome


spondyloepimetaphyseal dysplasia with joint laxity


T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta


severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome


familial hemophagocytic lymphohistiocytosis 5


peroxisome biogenesis disorder due to PEX1 defect


osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome


rolandic epilepsy-speech dyspraxia syndrome


hereditary hypercarotenemia and vitamin A deficiency


X-linked intellectual disability-spastic quadriparesis syndrome


pulmonary artery coming from patent ductus arteriosus


retinitis pigmentosa with or without situs inversus


microcephalic osteodysplastic primordial dwarfism


zinc-responsive necrolytic acral erythema


qualitative or quantitative protein defects in neuromuscular diseases


inborn disorder of serine family metabolism


Bicervical bicornuate uterus and blind hemivagina


melanoma, cutaneous malignant, susceptibility to, 6


peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome


parietal foramina with cleidocranial dysplasia


axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy


intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome


endometrioid stromal and related neoplasms of the vagina


keratosis palmaris et plantaris-clinodactyly syndrome


inborn disorder of phenylalanine and tyrosine metabolism


intellectual disability, autosomal recessive 28


facial paresis, hereditary congenital, 1


Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome


congenital myopathy with excess of thin filaments


interstitial granulomatous dermatitis with arthritis


epilepsy of infancy with migrating focal seizures


familial juvenile hyperuricemic nephropathy type 2


melanoma, cutaneous malignant, susceptibility to, 4


mitochondrial complex 1 deficiency, nuclear type 11


autosomal recessive nonsyndromic hearing loss 65


autosomal dominant limb-girdle muscular dystrophy type 1F


radioulnar synostosis with amegakaryocytic thrombocytopenia 1


encephalopathy due to hydroxykynureninuria


X-linked intellectual disability-macrocephaly-macroorchidism syndrome


congenital lactic acidosis, Saguenay-Lac-Saint-Jean type


split-hand/foot malformation with long bone deficiency 2


autosomal dominant nocturnal frontal lobe epilepsy 3


hereditary thrombophilia due to congenital protein S deficiency


secondary hypoparathyroidism due to impaired parathormon secretion


intellectual disability, autosomal recessive 34


hemolytic anemia due to adenylate kinase deficiency


intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly


hypogonadotropic hypogonadism 9 with or without anosmia


pure or complex autosomal recessive spastic paraplegia


microcephaly 6, primary, autosomal recessive


autosomal recessive nonsyndromic hearing loss 45


cloverleaf skull-multiple congenital anomalies syndrome


intellectual disability, X-linked, with or without seizures, arx-related


hyperphosphatasia with intellectual disability syndrome 6


hypophosphatemic rickets, autosomal recessive, 1


hypogonadotropic hypogonadism 25 with anosmia


developmental and epileptic encephalopathy, 70


microcephaly 19, primary, autosomal recessive


autosomal recessive ataxia due to ubiquinone deficiency


autoimmune disorder of peripheral nervous system


Ehlers-Danlos syndrome, musculocontractural type


familial clubfoot due to PITX1 point mutation


non-syndromic urogenital tract malformation of female


autoimmune disorder of central nervous system


intellectual disability, autosomal recessive 14


mucopolysaccharidosis type 6, slowly progressing


myoclonic epilepsy, progressive, X-linked


partial trisomy of the long arm of chromosome 20


microcytic anemia with liver iron overload


dyskeratosis congenita, autosomal recessive 1


amelogenesis imperfecta hypomaturation type 2A3


qualitative or quantitative defects of Torsin-1A-interacting protein 1


idiopathic multicentric Castleman disease


amelogenesis imperfecta hypomaturation type 2A2


childhood epilepsy with centrotemporal spikes


short-rib thoracic dysplasia 11 with or without polydactyly


autosomal recessive nonsyndromic hearing loss 104


developmental and epileptic encephalopathy, 53


hereditary palmoplantar keratoderma, Gamborg-Nielsen type


sudden infant death-dysgenesis of the testes syndrome


double outlet right ventricle with non-committed subpulmonary ventricular septal defect


neurodevelopmental disorder with language impairment and behavioral abnormalities


glycogen storage disorder due to hepatic glycogen synthase deficiency


polymicrogyria with optic nerve hypoplasia


SLC35A1-congenital disorder of glycosylation


spondyloepimetaphyseal dysplasia with joint laxity, type 3


dyssegmental dysplasia, Rolland-Desbuquois type


Ehlers-Danlos syndrome, vascular-like type


Kallmann syndrome-heart disease syndrome


melanoma, cutaneous malignant, susceptibility to, 2


autosomal recessive nonsyndromic hearing loss 85


double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy


congenital pseudoarthrosis of the fibula


immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome


autosomal dominant nonsyndromic hearing loss 59


combined oxidative phosphorylation defect type 25


selective pituitary resistance to thyroid hormone


idiopathic pulmonary arterial hypertension


neurodevelopmental disorder with microcephaly, seizures, and brain atrophy


camptodactyly-tall stature-scoliosis-hearing loss syndrome


spondyloepimetaphyseal dysplasia, di rocco type


periodic paralysis with later-onset distal motor neuropathy


combined oxidative phosphorylation defect type 8


intellectual disability, autosomal recessive 45


congenital absence of both lower leg and foot


multiple epiphyseal dysplasia, Beighton type


glycogen storage disease due to glucose-6-phosphatase deficiency type IA


spastic paraplegia-precocious puberty syndrome


amyotrophic lateral sclerosis type 2, juvenile


neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum


acute anterolateral myocardial infarction


neurodegeneration with brain iron accumulation 5


autosomal dominant diffuse mutilating palmoplantar keratoderma


classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form


resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta


Bosch-Boonstra-Schaaf optic atrophy syndrome


mitochondrial complex V (ATP synthase) deficiency nuclear type 3


hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome


AP4-related intellectual disability and spastic paraplegia


qualitative or quantitative defects of beta-myosin heavy chain (MYH7)


muscular dystrophy-dystroglycanopathy type B6


isolated focal non-epidermolytic palmoplantar keratoderma


hypotonia-failure to thrive-microcephaly syndrome


POMGNT2-related limb-girdle muscular dystrophy R24


alpha-N-acetylgalactosaminidase deficiency type 2


malignant glandular tumor of peripheral nerve sheath


frontotemporal dementia with motor neuron disease


carbamoyl phosphate synthetase I deficiency disease


congenital myopathy with myasthenic-like onset


Prader-Willi syndrome due to paternal 15q11q13 deletion


autosomal recessive congenital ichthyosis 11


spondyloepimetaphyseal dysplasia, Missouri type


alacrima, achalasia, and intellectual disability syndrome


early-onset posterior subcapsular cataract


B-cell childhood acute lymphoblastic leukemia


autosomal recessive cerebellar ataxia with late-onset spasticity


recessive dystrophic epidermolysis bullosa inversa


epileptic encephalopathy, infantile or early childhood, 1


adult type testicular granulosa cell tumor


Grn-related frontotemporal lobar degeneration with Tdp43 inclusions


combined oxidative phosphorylation deficiency 46


food protein-induced enterocolitis syndrome


autosomal recessive intermediate Charcot-Marie-Tooth disease


hereditary hyperferritinemia with congenital cataracts


acute myeloid leukemia, t(11;19)(q23;p13)


autoinflammatory syndrome due to TBK1 deficiency


cleft palate-short stature-vertebral anomalies syndrome


hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation


developmental and epileptic encephalopathy, 81


muscular dystrophy, limb-girdle, autosomal recessive 26


infantile-onset ascending hereditary spastic paralysis


hypothyroidism due to iodide transport defect


thrombophilia due to protein S deficiency, autosomal dominant


autosomal dominant nonsyndromic hearing loss 28


neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities


muscular dystrophy, Hemizygous lethal type


unilateral aplasia of the mullerian ducts


chronic relapsing inflammatory optic neuropathy


congenital anomalies of kidney and urinary tract 1


combined immunodeficiency due to STK4 deficiency


Preaxial polydactyly of toes, unilateral


X-linked intellectual disability-craniofacioskeletal syndrome


pidermolysis bullosa simplex 5A, Ogna type


infantile hypertrophic cardiomyopathy due to MRPL44 deficiency


polycystic kidney disease 6 with or without polycystic liver disease


neuronopathy, distal hereditary motor, type 7A


combined oxidative phosphorylation deficiency 51


factor V and factor VIII, combined deficiency of, type 1


progressive familial heart block type IB


46,XX ovarian dysgenesis-short stature syndrome


generalized epilepsy with febrile seizures plus, type 9


acute myeloid leukemia, t(6;11)(q27;q23)


Ehlers-Danlos syndrome, periodontitis type


combined oxidative phosphorylation defect type 26


neurodevelopmental disorder with severe motor impairment and absent language


microphthalmia, isolated, with coloboma 3


Pelger-Huet-like anomaly and episodic fever with abdominal pain


renal tubulopathy-encephalopathy-liver failure syndrome


inborn disorder of gamma-aminobutyric acid metabolism


congenital dyserythropoietic anemia type type 1B


amyotrophic lateral sclerosis with polyglucosan bodies


combined immunodeficiency due to RELA haploinsufficiency


developmental and epileptic encephalopathy, 13


autosomal dominant optic atrophy plus syndrome


agenesis of the corpus callosum with peripheral neuropathy


X-linked intellectual disability with marfanoid habitus


congenital disorder of deglycosylation 2


myeloid/lymphoid neoplasm associated with JAK2 rearrangement


gnb5-related intellectual disability-cardiac arrhythmia syndrome


developmental and epileptic encephalopathy, 4


neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies


limbic encephalitis with LGI1 antibodies


autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation


epidermolysis bullosa simplex 5B, with muscular dystrophy


autosomal dominant popliteal pterygium syndrome


encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1


mesomelic dwarfism, Reinhardt-Pfeiffer type


spondyloepiphyseal dysplasia tarda, X-linked


combined deficiency of factor VII and factor X


mitochondrial complex 1 deficiency, nuclear type 7


congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome


microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome


retinal dystrophy in systemic or cerebroretinal lipidoses


infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly


mitochondrial myopathy-lactic acidosis-deafness syndrome


partial deletion of the short arm of chromosome 10


dyskeratosis congenita, autosomal dominant 6


mixed epithelial stromal tumor of the kidney


autosomal dominant progressive external ophthalmoplegia


autosomal recessive nonsyndromic hearing loss 31


benign infantile seizures associated with mild gastroenteritis


tumor of hematopoietic and lymphoid tissues


immunodeficiency due to a late component of complement deficiency


spondylometaphyseal dysplasia, East African type


autosomal dominant congenital benign spinal muscular atrophy


optic atrophy 13 with retinal and foveal abnormalities


congenital pulmonary airway malformation type 2


optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy


acromesomelic dysplasia 1, Maroteaux type


alanine glyoxylate aminotransferase deficiency


atypical hemolytic-uremic syndrome with DGKE deficiency


intellectual disability, autosomal dominant 4


pyruvate dehydrogenase E1-beta deficiency


intellectual disability, autosomal recessive 7


distal myopathy with anterior tibial onset


chromosome 16p12.2-p11.2 deletion syndrome


autosomal recessive spinocerebellar ataxia 20


short-rib thoracic dysplasia 16 with or without polydactyly


X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2


blepharophimosis - intellectual disability syndrome


autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome


autosomal dominant nonsyndromic hearing loss 24


congenital hereditary endothelial dystrophy type I


scalp defects-postaxial polydactyly syndrome


progressive external ophthalmoplegia with mitochondrial DNA deletions


sporadic fetal brain disruption sequence


Diamond-Blackfan anemia 14 with mandibulofacial dysostosis


microcephaly, growth restriction, and increased sister chromatid exchange 2


myopathy, lactic acidosis, and sideroblastic anemia 3


inborn disorder of pyrimidine metabolism


infertility due to extratesticular cause


spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits


partial duplication of the short arm of chromosome 16


intellectual disability, autosomal recessive 5


autosomal dominant cerebellar ataxia type IV


AIDS-related primary central nervous system lymphoma


COG5-congenital disorder of glycosylation


short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome


congenital disorder of glycosylation, type IAA


X-linked neurodegenerative syndrome, Bertini type


congenital retinal arteriovenous communication


X-linked intellectual disability-acromegaly-hyperactivity syndrome


qualitative or quantitative defects of desmin


frontotemporal dementia and/or amyotrophic lateral sclerosis


hereditary sensory and autonomic neuropathy type 1B


benign epithelial tumor of salivary glands


hereditary arterial and articular multiple calcification syndrome


intellectual disability, autosomal dominant 50


peroxisome biogenesis disorder 5A (Zellweger)


partial duplication of the short arm of chromosome 4


combined immunodeficiency with skin granulomas


spinocerebellar ataxia, autosomal recessive 22


thrombophilia due to protein C deficiency, autosomal dominant


partial duplication of the long arm of chromosome 1


autosomal recessive primary microcephaly


congenital cataracts-facial dysmorphism-neuropathy syndrome


intellectual disability, autosomal dominant 16


autoimmune disease of ear, nose and throat


congenital accessory mitral valve tissue


mitochondrial complex 1 deficiency, nuclear type 21


partial circumpapillary choroid dystrophy


congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency


inherited renal cancer-predisposing syndrome


hidrotic ectodermal dysplasia, Christianson-Fourie type


acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent


multiple mitochondrial DNA deletion syndrome


isolated congenitally uncorrected transposition of the great arteries


autosomal recessive nonsyndromic hearing loss 40


microcephaly 21, primary, autosomal recessive


Charcot-Marie-Tooth disease axonal type 2P


glomerulopathy with fibronectin deposits 1


proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis


intellectual disability, autosomal recessive 11


microcephaly 25, primary, autosomal recessive


peroxisome biogenesis disorder due to PEX13 defect


carnitine palmitoyl transferase II deficiency, myopathic form


partial trisomy/tetrasomy of chromosome 18


leukoencephalopathy, progressive, with ovarian failure


neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies


dominant hypophosphatemia with nephrolithiasis or osteoporosis


neurodegeneration with brain iron accumulation


autosomal dominant medullary cystic kidney disease with or without hyperuricemia


excretory apparatus of the lacrimal system anomaly


autosomal dominant Ehlers-Danlos syndrome, vascular type


brain dopamine-serotonin vesicular transport disease


congenital stationary night blindness autosomal dominant 1


developmental and epileptic encephalopathy, 31


congenital or early infantile CACH syndrome


hypogonadotropic hypogonadism 16 with or without anosmia


autosomal dominant nonsyndromic hearing loss 33


syndromic X-linked intellectual disability 17


osteochondritis of tarsal/metatarsal bone


Charcot-Marie-Tooth disease dominant intermediate B


neurodevelopmental disorder with midbrain and hindbrain malformations


mitochondrial complex 4 deficiency, nuclear type 21


medium/large size posterior uveal melanoma


mitochondrial complex 1 deficiency, nuclear type 2


chronic inflammatory demyelinating polyradiculoneuropathy


cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome


human T-lymphotropic virus 1 infectious disease


dystrophic epidermolysis bullosa pruriginosa


intellectual disability, autosomal dominant 46


macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome


chondrocalcinosis due to apatite crystal deposition


autosomal recessive congenital ichthyosis


developmental and epileptic encephalopathy, 32


inherited nervous system cancer-predisposing syndrome


congenital generalized hypercontractile muscle stiffness syndrome


spondyloepimetaphyseal dysplasia, Handigodu type


microcephaly 3, primary, autosomal recessive


colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome


chondrodysplasia punctata, Toriello type


hereditary motor and sensory neuropathy with acrodystrophy


muscular dystrophy, limb-girdle, autosomal dominant


neurodevelopmental disorder with structural brain anomalies and dysmorphic facies


palmoplantar keratoderma, punctate type ib


punctate palmoplantar keratoderma type III


arthrogryposis, renal dysfunction, and cholestasis 1


progressive myoclonic epilepsy with neuroserpin inclusion bodies


sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome


susceptibility to respiratory infections associated with CD8alpha chain mutation


central centrifugal cicatricial alopecia


congenital complete agenesis of pericardium


autoimmune encephalopathy with parasomnia and obstructive sleep apnea


palmoplantar keratoderma, Nagashima type


autosomal recessive nonsyndromic hearing loss 70


cellular phase chronic idiopathic myelofibrosis


catecholaminergic polymorphic ventricular tachycardia


congenital absence/hypoplasia of thumb, unilateral


hantavirus hemorrhagic fever with renal syndrome


GTP cyclohydrolase I deficiency with hyperphenylalaninemia


acute myeloid leukemia, t(16;16)(p13.1;q22)


intellectual disability, X-linked, syndromic, Houge type


autosomal dominant optic atrophy and peripheral neuropathy


congenital stationary night blindness autosomal dominant 2


autosomal recessive nonsyndromic hearing loss 18A


autosomal recessive nonsyndromic hearing loss 89


atypical Gaucher disease due to saposin C deficiency


neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies


dystrophies primarily involving the retinal pigment epithelium


XYLT1-congenital disorder of glycosylation


microcephalic osteodysplastic primordial dwarfism type II


aniridia-cerebellar ataxia-intellectual disability syndrome


combined immunodeficiency due to moesin deficiency


agammaglobulinemia 5, autosomal dominant


skeletal dysplasia-intellectual disability syndrome


tumoral calcinosis, hyperphosphatemic, familial, 1


inflammatory bowel disease-recurrent sinopulmonary infections syndrome


intellectual developmental disorder, autosomal dominant 66


foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome


hypothyroidism, congenital, nongoitrous, 5


Charcot-Marie-Tooth disease, axonal, type 2EE


cardiomyopathy hypogonadism metabolic anomalies


autosomal dominant mitochondrial myopathy with exercise intolerance


nephropathy secondary to a storage or other metabolic disease


autosomal dominant nonsyndromic hearing loss 22


TH-deficient progressive infantile encephalopathy


microphthalmia, isolated, with coloboma 9


neuropathy, hereditary sensory and autonomic, type 1C


autosomal recessive hypophosphatemic rickets


autosomal recessive congenital ichthyosis 10


complex cortical dysplasia with other brain malformations 3


THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome


infection-related hemolytic uremic syndrome


congenital anomaly of the mitral subvalvular apparatus


ventricular fibrillation, paroxysmal familial, 2


short-rib thoracic dysplasia 10 with or without polydactyly


Mayer-Rokitansky-Küster-Hauser syndrome type 2


carbon monoxide-induced delayed encephalopathy


congenital absence/hypoplasia of fingers excluding thumb, unilateral


mucopolysaccharidosis type 6, rapidly progressing


non-syndromic urogenital tract malformation of male


disorder of metabolite absorption and transport


neurodevelopmental disorder and language delay with or without structural brain abnormalities


combined oxidative phosphorylation deficiency 52


congenital dyserythropoietic anemia type 3


recessive aplasia cutis congenita of limbs


CIDEC-related familial partial lipodystrophy


defect in conserved oligomeric Golgi complex


intellectual disability, autosomal recessive 10


partial duplication of the short arm of chromosome 3


progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome


intellectual disability, autosomal recessive 51


inborn disorder of amino acid and other organic acid metabolism


spongiform encephalopathy with neuropsychiatric features


COG6-ongenital disorder of glycosylation


autism spectrum disorder due to AUTS2 deficiency


congenital pulmonary airway malformation type 0


dyskeratosis congenita, autosomal dominant 3


central nervous system hematopoietic neoplasm


complete atrioventricular canal-left heart obstruction syndrome


immunodeficiency 78 with autoimmunity and developmental delay


spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures


inborn disorder of amino acid metabolism


short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis


mitochondrial complex 1 deficiency, nuclear type 29


mitochondrial complex V (ATP synthase) deficiency nuclear type 2


lissencephaly with cerebellar hypoplasia type F


neuropathy, hereditary motor and sensory, type VIc, with optic atrophy


metaphyseal dysplasia, Braun-Tinschert type


developmental and epileptic encephalopathy, 51


syndromic X-linked intellectual disability Shashi type


atypical hemolytic-uremic syndrome with MCP/CD46 anomaly


osteopathia striata with cranial sclerosis


peroxisome biogenesis disorder due to PEX10 defect


Ehlers-Danlos syndrome, periodontal type 2


intellectual disability, autosomal recessive 27


hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome


desmin-related myopathy with Mallory body-like inclusions


arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome


hyperlysinemia due to defect in lysine transport into mitochondria


X-linked dyserythropoetic anemia with abnormal platelets and neutropenia


short-rib thoracic dysplasia 7 with or without polydactyly


acute myeloid leukemia with minimal differentiation


epidermolysis bullosa, junctional 3A, intermediate


periodic fever-infantile enterocolitis-autoinflammatory syndrome


hirsutism-skeletal dysplasia-intellectual disability syndrome


mandibuloacral dysplasia with type A lipodystrophy


upper limb defect-eye and ear abnormalities syndrome


pulmonary hypertension owing to lung disease and/or hypoxia


combined oxidative phosphorylation deficiency 53


adenylosuccinate synthetase-like 1-related distal myopathy


spastic paraplegia 82, autosomal recessive


congenitally short costocoracoid ligament


Spondyloenchondrodysplasia with immune dysregulation


central retinal vein occlusion with macular edema


epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive


cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome


external auditory canal atresia-vertical talus-hypertelorism syndrome


congenital myopathy with reduced type 2 muscle fibers


holoprosencephaly-radial heart renal anomalies syndrome


cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1


epidermolysis bullosa, junctional 4, intermediate


disseminated visceral giant cell angiitis


hypogonadotropic hypogonadism 14 with or without anosmia


hypercholesterolemia, autosomal dominant, 3


SIN3A-related intellectual disability syndrome due to a point mutation


microcephaly 13, primary, autosomal recessive


nasal cavity and paranasal sinus lethal midline granuloma


developmental and epileptic encephalopathy, 88


pituitary deficiency due to Rathke's pouch cysts


brain small vessel disease 1 with or without ocular anomalies


myalgia-eosinophilia syndrome associated with tryptophan


ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive


sensory ataxic neuropathy, dysarthria, and ophthalmoparesis


sickle cell-hemoglobin d disease syndrome


paternal uniparental disomy of chromosome 13


autosomal recessive spastic paraplegia type 69


developmental and epileptic encephalopathy, 43


X-linked dominant hypophosphatemic rickets


MELAS syndrome caused by mutation in MTTQ


benign vaginal mixed epithelial and mesenchymal neoplasm


mitochondrial complex I deficiency, mitochondrial type


early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome


melanoma, cutaneous malignant, susceptibility to, 5


developmental and epileptic encephalopathy, 37


developmental and epileptic encephalopathy, 47


multiple epiphyseal dysplasia, with miniepiphyses


carnitine palmitoyltransferase II deficiency


spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy


autosomal recessive familial Mediterranean fever


childhood multilocular cystic kidney neoplasm


partial deletion of the short arm of chromosome 7


hemophagocytic lymphohistiocytosis, familial, 6


partial trisomy/tetrasomy of chromosome 5


diffuse idiopathic pulmonary neuroendocrine cell hyperplasia


acquired chronic primary adrenal insufficiency


spinocerebellar ataxia, autosomal recessive 27


partial duplication of the short arm of chromosome 10


maternal uniparental disomy of chromosome 13


dystrophic epidermolysis bullosa, nails only


physiological malfunction arising from mental factor


vitamin K-dependent clotting factors, combined deficiency of, type 1


mitochondrial complex 2 deficiency, nuclear type 3


peritoneal well differentiated papillary mesothelioma


junctional epidermolysis bullosa inversa


partial deletion of the short arm of chromosome 16


nodular lymphocyte predominant Hodgkin lymphoma


cone-rod synaptic disorder, congenital nonprogressive


congenital disorder of glycosylation, type IIq


early-onset calcifying leukoencephalopathy-skeletal dysplasia


maternal uniparental disomy of chromosome 9


glaucoma with elevated episcleral venous pressure


mitochondrial complex III deficiency nuclear type 1


ocular melanoma with extraocular extension


lethal short-limb skeletal dysplasia, Al Gazali type


mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)


combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1


spastic ataxia-dysarthria due to glutaminase deficiency


qualitative or quantitative defects of gamma-sarcoglycan


genital herpes simplex type 2 infectious disorder


developmental and epileptic encephalopathy, 11


maternal uniparental disomy of chromosome 22


proximal chromosome 18q deletion syndrome


metachromatic leukodystrophy, juvenile form


acute myeloid leukemia with t(6;9)(p23;q34)


qualitative or quantitative defects of alpha-sarcoglycan


acute myeloid leukemia with mutated NPM1


erythrokeratodermia variabilis et progressiva 5


combined immunodeficiency due to partial RAG1 deficiency


intellectual disability, autosomal recessive 53


visceral malformation of the liver, biliary tract, pancreas or spleen


rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome


ophthalmoplegia-intellectual disability-lingua scrotalis syndrome


Ewing sarcoma/peripheral primitive neuroectodermal tumor


Ehlers-Danlos syndrome, dermatosparaxis type


Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1


congenital absence of both lower leg and foot, bilateral


Leydig cell hypoplasia due to complete LH resistance


maternal uniparental disomy of chromosome 20


combined oxidative phosphorylation deficiency 34


disorder of carbohydrate transmembrane transport and absorption


von Willebrand disease (hereditary or acquired)


intellectual disability-hypotonia-spasticity-sleep disorder syndrome


megaconial type congenital muscular dystrophy


hypotonia, infantile, with psychomotor retardation and characteristic facies 1


sulfide quinone oxidoreductase deficiency


nystagmus 4, congenital, autosomal dominant


facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome


encephalopathy due to prosaposin deficiency


neurodevelopmental disorder with or without anomalies of the brain, eye, or heart


thrombophilia, X-linked, due to factor 9 defect


congenital disorder of deglycosylation 1


leukoencephalopathy with bilateral anterior temporal lobe cysts


mitochondrial complex 4 deficiency, nuclear type 14


intellectual disability, autosomal dominant 33


infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia


X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome


central polydactyly of fingers, bilateral


progressive supranuclear palsy-progressive non-fluent aphasia syndrome


B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality


familial steroid-resistant nephrotic syndrome with sensorineural deafness


macrothrombocytopenia, isolated, 2, autosomal dominant


intellectual disability, autosomal dominant 1


retinal ciliopathy due to mutation in Usher gene


immunodeficiency, common variable, due to APRIL deficiency


oligoarticular juvenile idiopathic arthritis


calvarial doughnut lesions-bone fragility syndrome


intellectual disability, autosomal recessive 16


early-onset pulmonary and cutaneous vasculitis


autosomal recessive nonsyndromic hearing loss 37


carnitine palmitoyl transferase II deficiency, neonatal form


visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome


focal palmoplantar and gingival keratoderma


focal palmoplantar keratoderma with joint keratoses


hypogonadotropic hypogonadism 22 with or without anosmia


porencephaly-cerebellar hypoplasia-internal malformations syndrome


congenital dyserythropoietic anemia type 2


MELAS syndrome caused by mutation in MTND1


malignant dysgerminomatous germ cell tumor of ovary


DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion


undetermined early-onset epileptic encephalopathy


autosomal dominant nonsyndromic hearing loss 30


developmental and epileptic encephalopathy, 19


intellectual disability, autosomal dominant 10


neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities


epidermolysis bullosa, junctional 5A, intermediate


Pelizaeus-Merzbacher disease in female carriers


B-lymphoblastic leukemia/lymphoma with hypodiploidy


asynchronous multifocal osteogenic sarcoma


congenital herpes simplex virus infection


extensive peripapillary myelinated nerve fibers


neurodegeneration with brain iron accumulation 2A


malignant germ cell tumor of cervix uteri


granulomatous disease, chronic, autosomal recessive, 5


spondylometaphyseal dysplasia, Czarny-Ratajczak type


muscular dystrophy, limb-girdle, autosomal dominant 4


corneal dystrophy-perceptive deafness syndrome


lissencephaly with cerebellar hypoplasia


Angelman syndrome due to a point mutation


psoriasis-related juvenile idiopathic arthritis


florid cystic endosalpingiosis of the uterus


intellectual disability, X-linked, syndromic, Bain type


intra-abdominal lymph node mast cell malignancy


autosomal dominant nonsyndromic hearing loss 3A


metachromatic leukodystrophy, adult-onset, with normal arylsulfatase A


autosomal recessive distal osteolysis syndrome


neuronopathy, distal hereditary motor, type 2D


developmental and epileptic encephalopathy, 60


qualitative or quantitative defects of telethonin


partial duplication of the long arm of chromosome 7


myoclonic encephalopathy in non-progressive disorder


dysostosis with brachydactyly without extraskeletal manifestations


transient congenital hypothyroidism due to neonatal factor


hereditary sensory and autonomic neuropathy type 6


classic Hodgkin lymphoma, nodular sclerosis type


skin fragility-woolly hair-palmoplantar keratoderma syndrome


2-methylacetoacetyl CoA thiolase deficiency


intellectual developmental disorder, autosomal dominant 65


autosomal recessive nonsyndromic hearing loss 20


hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency


Dandy-Walker malformation-postaxial polydactyly syndrome


intravascular papillary endothelial hyperplasia


metaphyseal dysostosis-intellectual disability-conductive deafness syndrome


fetal akinesia-cerebral and retinal hemorrhage syndrome


progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5


spinal muscular atrophy, facioscapulohumeral type


glycosylphosphatidylinositol biosynthesis defect 15


developmental and epileptic encephalopathy, 45


progressive retinal dystrophy due to retinol transport defect


myopathy, lactic acidosis, and sideroblastic anemia 1


recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome


necrotizing encephalomyelopathy, subacute, of Leigh, adult


autosomal dominant nonsyndromic hearing loss 53


congenital insensitivity to pain-hypohidrosis syndrome


microphthalmia, isolated, with coloboma 6


hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism


autosomal dominant spondylocostal dysostosis


autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD


autosomal recessive nonsyndromic hearing loss 1B


disorder of folate metabolism and transport


Angelman syndrome due to paternal uniparental disomy of chromosome 15


peroxisome biogenesis disorder 13A (Zellweger)


thrombophilia due to protein C deficiency, autosomal recessive


limbic encephalitis with DPP6 antibodies


hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome


linear skin defects with multiple congenital anomalies 2


developmental and epileptic encephalopathy, 21


autosomal recessive nonsyndromic hearing loss 93


facial onset sensory and motor neuronopathy


hypogonadotropic hypogonadism 12 with or without anosmia


craniometadiaphyseal dysplasia, wormian bone type


late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome


paternal uniparental disomy of chromosome 20


non-syndromic polydactyly, syndactyly and/or hyperphalangy


benign lymphoepithelial lesion of salivary gland


combined oxidative phosphorylation deficiency 54


inborn disorder of ornithine or proline metabolism


agammaglobulinemia 6, autosomal recessive


congenital disorder of glycosylation, type 2v


intellectual disability, autosomal recessive 25


Wolman disease with hypolipoproteinemia and acanthocytosis


inborn disorder of pyridoxine metabolism


developmental and epileptic encephalopathy, 14


melanoma, cutaneous malignant, susceptibility to, 7


dyskinesia with orofacial involvement, autosomal dominant


congenital disorder of glycosylation, type iit


cortical dysplasia, complex, with other brain malformations 10


hyperphosphatasia with intellectual disability syndrome 1


congenital absence of both forearm and hand, bilateral


familial hemophagocytic lymphohistiocytosis 3


intellectual disability, autosomal dominant 6


developmental and epileptic encephalopathy, 55


autosomal thrombocytopenia with normal platelets


congenital heart defects, multiple types


craniosynostosis syndrome, autosomal recessive


epileptic encephalopathy, infantile or early childhood, 2


erythropoietic uroporphyria associated with myeloid malignancy


autosomal dominant aplasia and myelodysplasia


autosomal recessive nonsyndromic hearing loss 3


peroxisome biogenesis disorder 10A (Zellweger)


basal ganglia calcification, idiopathic, 4


limbic encephalitis with nCMAgs antibodies


autosomal recessive hereditary sensory and autonomic neuropathy


frontotemporal dementia and/or amyotrophic lateral sclerosis 7


PRKAR1B-related neurodegenerative dementia with intermediate filaments


polydactyly of a triphalangeal thumb, bilateral


epithelioid malignant peripheral nerve sheath tumor


macrothrombocytopenia, isolated, 1, autosomal dominant


immunotactoid or fibrillary glomerulopathy


viral infection of central nervous system


contractures-ectodermal dysplasia-cleft lip/palate syndrome


microphthalmia, isolated, with coloboma 5


unilateral multicystic dysplastic kidney


developmental and epileptic encephalopathy, 84


partial monosomy of the long arm of chromosome 9


46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency


infantile-onset X-linked spinal muscular atrophy


intellectual disability, autosomal recessive 46


neuropathy, hereditary sensory and autonomic, type 2B


adolescent/adult onset autosomal dominant epilepsy with auditory features


idiopathic linear interstitial keratitis


arthrogryposis-ectodermal dysplasia-other anomalies syndrome


autosomal recessive distal spinal muscular atrophy 2


developmental and epileptic encephalopathy 6B


congenital mitral valve insufficiency and/or stenosis


intellectual disability, autosomal dominant 20


junctional epidermolysis bullosa with pyloric atresia


steroid-responsive encephalopathy associated with autoimmune thyroiditis


congenital absence/hypoplasia of fingers excluding thumb, bilateral


complex neurodevelopmental disorder with motor features


B-lymphoblastic leukemia/lymphoma with hyperdiploidy